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首页> 外文期刊>Nucleus >Lamin B1 mediated demyelination: Linking Lamins, Lipids and Leukodystrophies
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Lamin B1 mediated demyelination: Linking Lamins, Lipids and Leukodystrophies

机译：Lamin B1介导的脱髓鞘作用：连接Lamins，脂质和白细胞营养

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Autosomal Dominant Leukodystrophy (ADLD), a fatal adult onset demyelinating disorder, is the only human disease that has been linked to mutations of the nuclear lamina protein, lamin B1, and is primarily caused by duplications of the LMNB1 gene. Why CNS myelin is specifically targeted and the mechanisms underlying ADLD are unclear. Recent work from our group has demonstrated that over expression of lamin B1 in oligodendrocytes, the myelin producing cells in the CNS, resulted in age dependent epigenetic modifications, transcriptional down-regulation of lipogenic gene expression and significant reductions of myelin-enriched lipids. Given the high lipid content of meylin, we hypothesize that lipid loss is one of the primary drivers of the demyelination phenotype. These results can, at least partially, explain the age dependence and cell type specificity in ADLD and are discussed in the context of the existing literature, in an attempt to delineate potential pathways underlying the disease phenotype.
机译：常染色体显性白细胞营养不良（ADLD）是一种致命的成人发作性脱髓鞘疾病，是唯一与核纤层蛋白Lamin B1突变相关的人类疾病，主要是由LMNB1基因的重复引起的。为什么中枢神经系统髓磷脂是特异性的靶点，而ADLD的潜在机制尚不清楚。我们小组的最新研究表明，少突胶质细胞中Lamin B1的过度表达导致CNS中产生髓磷脂的细胞导致年龄依赖性的表观遗传修饰，脂生基因表达的转录下调以及富含髓磷脂的脂质的显着减少。鉴于meylin的高脂质含量，我们假设脂质损失是脱髓鞘表型的主要驱动因素之一。这些结果至少可以部分解释ADLD中的年龄依赖性和细胞类型特异性，并在现有文献的背景下进行讨论，以试图描绘出疾病表型的潜在途径。

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